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Our Inherited Metabolic Disorders Program is one of the largest in the country with more than 300 active patients.

At Children’s National, we have the clinical expertise to diagnose and treat infants and children with these rare disorders, and offer an extensive support network for patients and their families to help them cope with a child’s illness.

Specialized Care

These disorders are rare among the general population and may be misdiagnosed, as symptoms are often similar to other conditions. The program provides diagnostic testing, evaluation, and management for patients with inborn errors of metabolism as well as definitive testing and treatment for patients identified by newborn metabolic screenings. Among the conditions we care for:

Biotinidase deficiency

Fatty acid oxidation disorders

Galactosemia

Maple syrup urine disease

Organic acidemias

PKU (phenylketonuria)

Urea cycle disorders

If your child is diagnosed with one of these disorders, the program offers a comprehensive specialized team that coordinates all aspects of your child’s care, including the services of metabolic dieticians for patients who must follow a special metabolic diet.

Research and Clinical Trials

Our program specialists are active in research and clinical trials to discover improved treatments and ultimately find a cure for these rare disorders.
Children’s National serves as the coordinating center for the Rare Disease Clinical Research Center for Urea Cycle Disorders funded by the National Institutes of Health, and we are part of the Urea Cycle Disorders Consortium. These national research efforts are investigating breakdowns of the urea cycle, a critical part of metabolism.
The program also is engaged in a benchmarking study to expedite the care of acutely ill metabolic patients in the Emergency Department and inpatient units.
To learn more about current research and clinical studies, speak with a member of your child’s care team.